Published on 06/30/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
Kunz Joachim B et al. Annals of hematology 2016 Feb 95(3) 397-402
Sickle Cell Trait Screening of Collegiate Athletes: Ethical Reasons for Program Reform.
Ferrari Rosalie et al. Journal of genetic counseling 2015 Dec 24(6) 873-7
FACT SHEET: At Cancer Moonshot Summit, Vice President Biden Announces New Actions to Accelerate Progress Toward Ending Cancer As We Know It
White House, June 28, 2016
Use and Costs for Tumor Gene Expression Profiling Panels in the Management of Breast Cancer From 2006 to 2012: Implications for Genomic Test Adoption Among Private Payers.
Roberts Megan C et al. Journal of oncology practice / American Society of Clinical Oncology 2015 Jul 11(4) 273-7
Benefit-Risk Summary of Crizotinib for the Treatment of Patients With ROS1 Alteration-Positive, Metastatic Non-Small Cell Lung Cancer.
Kazandjian Dickran et al. The oncologist 2016 Jun
When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.
Meiser B et al. European journal of human genetics : EJHG 2016 Jun
Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer.
Chiba Akiko et al. Annals of surgical oncology 2016 Jun
The integration of BRCA testing into oncology clinics.
Percival Natalie et al. British journal of nursing (Mark Allen Publishing) 2016 Jun 25(12) 690-4
The Evolution of Genetics: Alzheimer's and Parkinson's Diseases.
Singleton Andrew et al. Neuron 2016 Jun 90(6) 1154-63
Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.
Cuyvers Elise et al. The Lancet. Neurology 2016 Jul 15(8) 857-68
Genetic variants in Alzheimer disease - molecular and brain network approaches.
Gaiteri Chris et al. Nature reviews. Neurology 2016 Jun
Data Sharing and Inductive Learning--Toward Healthy Birth, Growth, and Development.
Jumbe N L'ntshotsholé, et al. The New England journal of medicine 2016 6 0. (25) 2415-7
Theyre going to CRISPR people. What could possibly go wrong?
S Begeley, StatNews, June 24, 2016
Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers.
Kleiderman E et al. Clinical genetics 2015 Oct 88(4) 320-6
Gene-therapy trials must proceed with caution.
Nature 2016 0 0. (7609) 590.Nature 2016 0 0. (7609) 590
Return of individual genomic research results: what do consent forms tell participants?
Pereira Stacey et al. European journal of human genetics : EJHG 2016 Jun
Ethical and Legal Challenges Associated with Public Molecular Autopsies.
Moore Quianta L et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 309-18
Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings.
Sabatello Maya et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 292-308
Will precision medicine improve public health
NCI online webinar debate by Drs S Galea and M. Khoury, June 27, 2016
The molecular hallmarks of epigenetic control.
Allis C David, et al. Nature reviews. Genetics 2016 0 0. (8) 487-500
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.
Swerdlow Daniel I et al. International journal of epidemiology 2016 Jun
The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
Nguyen M T et al. Clinical genetics 2015 Oct 88(4) 313-9
Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey.
Ahram Mamoun et al. Journal of genetic counseling 2015 Dec 24(6) 1001-10
Supporting genetics in primary care: investigating how theory can inform professional education.
Wilson Brenda J et al. European journal of human genetics : EJHG 2016 Jun
Genome variation in precision medicine.
Nature genetics 2016 0 0. (7) 701.Nature genetics 2016 0 0. (7) 701
Understanding public reactions to commercialization of biobanks and use of biobank resources.
Nicol Dianne et al. Social science & medicine (1982) 2016 Jun 16279-87
Epigenome-wide Association Studies and the Interpretation of Disease -Omics.
Birney Ewan et al. PLoS genetics 2016 Jun 12(6) e1006105
A crowdsourcing approach for reusing and meta-analyzing gene expression data.
Shah Naisha et al. Nature biotechnology 2016 Jun
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.
Doyle Debra Lochner et al. Journal of genetic counseling 2016 Jun
Heart, Lung, Blood and Sleep Diseases
These sisters are surviving a dangerous heart ailment together
Washington Post, June 27, 2016
The role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya Elena et al. Biochimica et biophysica acta 2016 Jul 1863(7 Pt B) 1799-805
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.
Bleyle Lisa et al. Molecular genetics and metabolism reports 2016 Jun 711-5
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Wiltink Rachel C et al. European journal of human genetics : EJHG 2016 Jun
Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory.
Kelly Nicole et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 231-40
Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios.
Fost Norman et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 241-55
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.
Hörster Friederike et al. JIMD reports 2016 Jun
Newborn screening for congenital adrenal hyperplasia in New York State.
Pearce Melissa et al. Molecular genetics and metabolism reports 2016 Jun 71-7
Codeine Pharmacogenetics as a Proof of Concept for Pediatric Precision Medicine.
Hudak Mark L et al. Pediatrics 2016 Jun
Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease.
Gammal Roseann S et al. Pediatrics 2016 Jun
Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.
Sahoo Trilochan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
4.50 from Paddington to Genomics - a look at the journey from arsenic and ancient alchemy to modern-day pharmacogenomics,
Genomics Education Programme, June 27, 2016
Psychiatric problems common in siblings of people with autism.
by Ann Griswold, Spectrum News, June 23, 2016
The ups and downs of data sharing in science.
Nature 2016 0 0. (7608) 435-6.Nature 2016 0 0. (7608) 435-6